Catalog
Inborn errors of glycosylation or other specified protein modification
Link to WHO Definition
Inborn errors of glycosylation or other specified protein modification – http://id.who.int/icd/entity/85138870
Congenital Disorders of Glycosylation (CDG) syndromes are a group of glycoprotein synthesis disorders characterised by neurological manifestations that can be associated with multivisceral involvement. The CDG syndromes are associated with different enzymatic deficits.